A. Antonio

发表

Whole-exome sequencing identifies LRIT3 mutations as a cause of autosomal-recessive complete congenital stationary night blindness.

Olivier Poch, Xavier Zanlonghi, Odile Lecompte, 2013, American journal of human genetics.

Lrit3 Deficient Mouse (nob6): A Novel Model of Complete Congenital Stationary Night Blindness (cCSNB)

J. Sahel, O. Poch, I. Audo, 2014, PloS one.

RP1 and autosomal dominant rod–cone dystrophy: Novel mutations, a review of published variants, and genotype–phenotype correlation

J. Sahel, S. Bhattacharya, I. Audo, 2012, Human mutation.

Phenotypic Characteristics of a French Cohort of Patients with X-Linked Retinoschisis.

J. Sahel, S. Mohand-Said, I. Audo, 2018, Ophthalmology.

A novel nonsense variant in REEP6 is involved in a sporadic rod‐cone dystrophy case

J. Sahel, I. Audo, S. Mohand-Saïd, 2018, Clinical genetics.

Multimodal imaging including semiquantitative short-wavelength and near-infrared autofluorescence in achromatopsia

J. Sahel, S. Mohand-Said, I. Audo, 2018, Scientific Reports.

Phenotype Analysis of Retinal Dystrophies in Light of the Underlying Genetic Defects: Application to Cone and Cone-Rod Dystrophies

J. Sahel, I. Audo, S. Mohand-Saïd, 2019, International journal of molecular sciences.

Retinal Phenotype of Patients With Isolated Retinal Degeneration Due to CLN3 Pathogenic Variants in a French Retinitis Pigmentosa Cohort.

J. Sahel, S. Mohand-Said, I. Audo, 2021, JAMA ophthalmology.

Novel C2orf71 mutations account for ∼1% of cases in a large French arRP cohort

J. Sahel, S. Bhattacharya, I. Audo, 2011, Human mutation.

Retrospective Natural History Study of RPGR-Related Cone- and Cone-Rod Dystrophies While Expanding the Mutation Spectrum of the Disease

J. Sahel, S. Mohand-Said, I. Audo, 2022, International journal of molecular sciences.

An unusual retinal phenotype associated with a novel mutation in RHO.

J. Sahel, S. Bhattacharya, O. Poch, 2010, Archives of ophthalmology.

Whole exome sequencing resolves complex phenotype and identifies CC2D2A mutations underlying non‐syndromic rod‐cone dystrophy

J. Sahel, I. Audo, S. Mohand-Saïd, 2018, Clinical genetics.

Where are the missing gene defects in inherited retinal disorders? Intronic and synonymous variants contribute at least to 4% of CACNA1F‐mediated inherited retinal disorders

J. Sahel, C. Jubin, T. de Ravel, 2019, Human mutation.

Association of Missense Variants in VSX2 With a Peculiar Form of Congenital Stationary Night Blindness Affecting All Bipolar Cells.

J. Sahel, I. Audo, I. Perrault, 2022, JAMA ophthalmology.

A New Mouse Model for Complete Congenital Stationary Night Blindness Due to Gpr179 Deficiency

J. Sahel, I. Audo, M. M. de Sousa Dias, 2021, International journal of molecular sciences.

CHM mutation spectrum and disease: An update at the time of human therapeutic trials

J. Sahel, A. Roux, I. Audo, 2021, Human mutation.

Longitudinal Clinical Follow-up and Genetic Spectrum of Patients With Rod-Cone Dystrophy Associated With Mutations in PDE6A and PDE6B.

J. Sahel, I. Audo, S. Mohand-Saïd, 2019, JAMA ophthalmology.

PHENOTYPIC CHARACTERISTICS OF ROD-CONE DYSTROPHY ASSOCIATED WITH MYO7A MUTATIONS IN A LARGE FRENCH COHORT.

J. Sahel, C. Petit, A. Roux, 2019, Retina.

Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindness.

Olivier Poch, Sabine Defoort-Dhellemmes, Xavier Zanlonghi, 2012, American journal of human genetics.

TRPM1 is mutated in patients with autosomal-recessive complete congenital stationary night blindness.

T. Léveillard, J. Sahel, S. Jacobson, 2009, American journal of human genetics.

MERTK mutation update in inherited retinal diseases

J. Sahel, S. Mohand-Said, I. Audo, 2018, Human mutation.

Next-generation sequencing applied to a large French cone and cone-rod dystrophy cohort: mutation spectrum and new genotype-phenotype correlation

J. Sahel, E. Souied, I. Audo, 2015, Orphanet Journal of Rare Diseases.

CRB1 mutations in inherited retinal dystrophies

T. Léveillard, J. Sahel, S. Bhattacharya, 2012, Human mutation.

Multimodal imaging including semiquantitative short-wavelength and near-infrared autofluorescence in achromatopsia

J. Sahel, S. Mohand-Said, I. Audo, 2018, Scientific Reports.

Mutations in IFT172 cause isolated retinal degeneration and Bardet-Biedl syndrome.

Marni J. Falk, J. Sahel, A. D. den Hollander, 2015, Human molecular genetics.

WDR34, a candidate gene for non‐syndromic rod‐cone dystrophy

T. Léveillard, J. Sahel, S. Bhattacharya, 2020, Clinical genetics.

Development and application of a next-generation-sequencing (NGS) approach to detect known and novel gene defects underlying retinal diseases

T. Léveillard, J. Sahel, S. Bhattacharya, 2012, Orphanet Journal of Rare Diseases.

Prevalence and novelty of PRPF31 mutations in French autosomal dominant rod-cone dystrophy patients and a review of published reports

J. Sahel, S. Bhattacharya, V. Moskova-Doumanova, 2010, BMC Medical Genetics.

The familial dementia gene revisited: a missense mutation revealed by whole-exome sequencing identifies ITM2B as a candidate gene underlying a novel autosomal dominant retinal dystrophy in a large family.

T. Léveillard, J. Sahel, X. Guillonneau, 2014, Human molecular genetics.

A novel DFNB31 mutation associated with Usher type 2 syndrome showing variable degrees of auditory loss in a consanguineous Portuguese family.

J. Sahel, S. Bhattacharya, I. Audo, 2011, Molecular vision.

Peripapillary Sparing With Near Infrared Autofluorescence Correlates With Electroretinographic Findings in Patients With Stargardt Disease.

J. Sahel, I. Audo, S. Mohand-Saïd, 2019, Investigative ophthalmology & visual science.

Prevalence of ABCA4 Deep-Intronic Variants and Related Phenotype in An Unsolved “One-Hit” Cohort with Stargardt Disease

J. Sahel, I. Audo, S. Mohand-Saïd, 2019, International journal of molecular sciences.

Expanding the Mutation Spectrum in ABCA4: Sixty Novel Disease Causing Variants and Their Associated Phenotype in a Large French Stargardt Cohort

J. Sahel, I. Audo, S. Mohand-Saïd, 2018, International journal of molecular sciences.

J. Sahel, W. Hauswirth, V. Greenstein, 2021, Human mutation.

ARL2BP mutations account for 0.1% of autosomal recessive rod‐cone dystrophies with the report of a novel splice variant

J. Sahel, I. Audo, S. Mohand-Saïd, 2017, Clinical genetics.

Identification of a Novel Homozygous Nonsense Mutation Confirms the Implication of GNAT1 in Rod-Cone Dystrophy

J. Sahel, O. Poch, C. Mayer, 2016, PloS one.

Targeted Next Generation Sequencing Identifies Novel Mutations in RP1 as a Relatively Common Cause of Autosomal Recessive Rod-Cone Dystrophy

J. Sahel, I. Audo, S. Mohand-Saïd, 2014, BioMed research international.

Outer retinal alterations associated with visual outcomes in Best vitelliform macular dystrophy.

J. Sahel, S. Mohand-Said, S. Mrejen, 2019, American journal of ophthalmology.

Near-infrared fundus autofluorescence alterations correlate with swept-source optical coherence tomography angiography findings in patients with retinitis pigmentosa

J. Sahel, S. Mohand-Said, A. Gaudric, 2021, Scientific Reports.

Large Benefit from Simple Things: High-Dose Vitamin A Improves RBP4-Related Retinal Dystrophy

J. Sahel, I. Audo, C. Zeitz, 2022, International journal of molecular sciences.

Spectrum of rhodopsin mutations in French autosomal dominant rod-cone dystrophy patients.

J. Sahel, S. Bhattacharya, V. Moskova-Doumanova, 2010, Investigative ophthalmology & visual science.

EYS is a major gene for rod‐cone dystrophies in France

J. Sahel, S. Bhattacharya, G. Antiñolo, 2010, Human mutation.

AUTOSOMAL DOMINANT VITREORETINOCHOROIDOPATHY: When Molecular Genetic Testing Helps Clinical Diagnosis

J. Sahel, S. Mohand-Said, I. Audo, 2019, Retina.

Mutated CCDC51 Coding for a Mitochondrial Protein, MITOK Is a Candidate Gene Defect for Autosomal Recessive Rod-Cone Dystrophy

T. Léveillard, J. Sahel, I. Audo, 2021, International journal of molecular sciences.

Whole-exome sequencing identifies KIZ as a ciliary gene associated with autosomal-recessive rod-cone dystrophy.

T. Léveillard, J. Sahel, I. Audo, 2014, American journal of human genetics.

RP1 and autosomal dominant rod–cone dystrophy: Novel mutations, a review of published variants, and genotype–phenotype correlation

J. Sahel, S. Bhattacharya, I. Audo, 2012, Human Mutation.

RP 1 and autosomal dominant rod-cone dystrophy : novel mutations , a review of published variants , and genotype-phenotype correlation

Sahel, S. Bhattacharya, I. Audo, 2019 .

Development and Application of a Next-generation- Sequencing (ngs) Approach to Detect Known and Novel Gene Defects Underlying Retinal Diseases

T. Léveillard, I. Audo, S. Mohand-Saïd, 2022 .